(Q48020534)

7 February 2018

title

Identification of a novel mutation in WFS1 in a family affected by low-frequency hearing impairment (English)

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7 February 2018

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Jürgen Kunz

1

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7 February 2018

Ben Marquez-Klaka

2

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7 February 2018

Steffen Uebe

3

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7 February 2018

Anja Volz-Peters

4

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7 February 2018

Roswitha Berger

5

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7 February 2018

Peter Rausch

6

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7 February 2018

language of work or name

English

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publication date

1 April 2003

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7 February 2018

published in

Mutation Research

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7 February 2018

volume

525

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7 February 2018

issue

1-2

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7 February 2018

page(s)

121-124

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7 February 2018

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900265-8

Further evidence for linkage of low-mid frequency hearing impairment to the candidate region on chromosome 4p16.3.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900265-8

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900265-8

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900265-8

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900265-8

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900265-8

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900265-8

WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2802%2900265-8

10.1016/S0027-5107(02)00265-8

7 January 2021

Identifiers

DOI

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7 February 2018

1 reference

7 February 2018